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DeepVariant-on-Spark: Small-Scale Genome Analysis Using a Cloud-Based Computing Framework.

Computational and mathematical methods in medicine - 1 Jan 2020

Huang Po-Jung, Chang Jui-Huan, Lin Hou-Hsien, Li Yu-Xuan, Lee Chi-Ching, Su Chung-Tsai, Li Yun-Lung, Chang Ming-Tai, Weng Sid, Cheng Wei-Hung, Chiu Cheng-Hsun, Tang Petrus

Abstract excerpt

Although sequencing a human genome has become affordable, identifying genetic variants from whole-genome sequence data is still a hurdle for researchers without adequate computing equipment or bioinformatics support. GATK is a gold standard method for the identification of genetic variants and has been widely used in genome projects and population genetic studies for many years. This was until the Google Brain...

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Identifiers

PMID: 32952600
DOI: 10.1155/2020/7231205
PMCID: PMC7481958

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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